ClinVar Miner

List of variants reported as likely benign for Monogenic diabetes

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_173560.4(RFX6):c.2176C>G (p.Arg726Gly) rs144648002 0.00436
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840 0.00243
NM_001042413.2(GLIS3):c.2089G>A (p.Val697Met) rs148816140 0.00229
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala) rs138343620 0.00225
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_002711.4(PPP1R3A):c.2640A>T (p.Arg880Ser) rs115322623 0.00194
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_002711.4(PPP1R3A):c.2267C>T (p.Pro756Leu) rs151310594 0.00173
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu) rs148123124 0.00170
NM_001042413.2(GLIS3):c.1090C>T (p.Pro364Ser) rs143056249 0.00165
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_002711.4(PPP1R3A):c.2990T>G (p.Phe997Cys) rs35572169 0.00154
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00145
NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro) rs146115506 0.00143
NM_173560.4(RFX6):c.2369G>A (p.Gly790Glu) rs57924353 0.00124
NM_000208.4(INSR):c.2575C>T (p.His859Tyr) rs149536206 0.00123
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_005068.3(SIM1):c.1864T>C (p.Ser622Pro) rs141415931 0.00105
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg) rs141304623 0.00103
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00093
NM_002711.4(PPP1R3A):c.2885G>A (p.Gly962Asp) rs148408134 0.00090
NM_001042413.2(GLIS3):c.1199A>G (p.His400Arg) rs376031632 0.00081
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_002666.5(PLIN1):c.838C>T (p.Arg280Trp) rs146721183 0.00073
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_006005.3(WFS1):c.2233G>A (p.Gly745Ser) rs139185707 0.00068
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00064
NM_002666.5(PLIN1):c.107G>T (p.Cys36Phe) rs140081686 0.00062
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_002303.6(LEPR):c.658G>A (p.Val220Ile) rs148349369 0.00054
NM_173560.4(RFX6):c.268G>A (p.Ala90Thr) rs377721888 0.00049
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro) rs149569288 0.00039
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_002666.5(PLIN1):c.814G>A (p.Val272Met) rs145476436 0.00032
NM_000208.4(INSR):c.224A>G (p.Asp75Gly) rs142910337 0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00012
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_175914.5(HNF4A):c.408G>A (p.Ala136=) rs374298096 0.00009
NM_175914.5(HNF4A):c.427-5C>T rs374703326 0.00009
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu) rs539891019 0.00006
NM_175914.5(HNF4A):c.321C>T (p.Ala107=) rs138290205 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00005
NM_000162.5(GCK):c.203G>A (p.Gly68Asp) rs373418736 0.00004
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=) rs772756175 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=) rs142268325 0.00003
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367 0.00002
NM_006996.3(SLC19A2):c.1276G>A (p.Val426Ile) rs1231702573 0.00002
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.766T>A (p.Ser256Thr) rs781711191 0.00001
NM_001042413.2(GLIS3):c.1973C>G (p.Ala658Gly) rs977500969 0.00001
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys) rs1057524883 0.00001
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387 0.00001
NM_001378454.1(ALMS1):c.6037G>T (p.Ala2013Ser) rs1057524884 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_175914.5(HNF4A):c.123C>T (p.Cys41=) rs147552575 0.00001
NM_000162.5(GCK):c.1317C>T (p.Ile439=) rs1554334455
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
NM_000545.8(HNF1A):c.1544C>A (p.Thr515Lys) rs745460046
NM_000545.8(HNF1A):c.306C>T (p.Ala102=) rs1486966222
NM_000545.8(HNF1A):c.539C>T (p.Ala180Val) rs1060499866
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606
NM_001042413.2(GLIS3):c.1085C>A (p.Pro362Gln) rs146131512
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn) rs1444578140
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.9112C>G (p.Pro3038Ala) rs370622410
NM_001378454.1(ALMS1):c.9779A>C (p.Asp3260Ala) rs745518051
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala) rs567720261
NM_002711.4(PPP1R3A):c.416C>G (p.Ser139Cys) rs1057524893
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_173560.4(RFX6):c.143C>T (p.Ala48Val) rs200522460
NM_173560.4(RFX6):c.1930C>T (p.Pro644Ser) rs762488509
NM_173560.4(RFX6):c.1955G>A (p.Arg652Gln) rs867520268
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)

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